Katarzyna Pokora-Babol

251 Pomorska Street
Lodz, LD 92213, Poland

Last Updated: 09/26/2026

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Found 32 publications

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.

Journal: Annals of hematology

Published: January 13, 2026

A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.

A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.

Journal: Frontiers in immunology

Published: October 02, 2025

Malignancy-Associated Hemophagocytic Lymphohistiocytosis: An Experience of 15 Years in Polish Pediatric Hematology Centers.

Malignancy-Associated Hemophagocytic Lymphohistiocytosis: An Experience of 15 Years in Polish Pediatric Hematology Centers.

Journal: Journal of blood medicine

Published: October 01, 2025

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Journal: Frontiers in immunology

Published: August 18, 2025

Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.

Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.

Journal: Frontiers in endocrinology

Published: June 28, 2025

Inherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.

Inherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.

Journal: Seminars in thrombosis and hemostasis

Published: January 13, 2025

Successful hematopoietic stem cell transplantation in MYH9-related congenital thrombocytopenia.

Successful hematopoietic stem cell transplantation in MYH9-related congenital thrombocytopenia.

Journal: Pediatric blood & cancer

Published: March 17, 2024

An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant.

An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant.

Journal: Children (Basel, Switzerland)

Published: September 29, 2023

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.

Journal: International journal of molecular sciences

Published: June 06, 2023

Congenital neutropenia: From lab bench to clinic bedside and back.

Congenital neutropenia: From lab bench to clinic bedside and back.

Journal: Mutation research. Reviews in mutation research

Published: May 17, 2023

A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.

A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.

Journal: Pediatric blood & cancer

Published: December 07, 2022

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

Journal: Frontiers in immunology

Published: August 31, 2022

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Last Updated: 09/26/2026